OMIA group 2432
Neuronal ceroid lipofuscinosis, 3
The chain reaches the human disease neuronal ceroid lipofuscinosis 3, which Mondo defines as: “A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.”
The chain
From the animal disease to the drugs. The page shows what each step found and where the chain stopped. It does not say whether the animal is a model of a human disease.
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Animal disease
Reached
OMIA records it in 2 species entries marked as a defect.
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Human disease
Reached
1 Mondo disease.
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Human gene
Reached
1 human gene.
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Target evidence
Reached
1 Open Targets association, with a best score of 0.83.
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Drugs
Stopped here
No ChEMBL drug acts on a human gene of the group's target evidence.
The chain stopped at Drugs: No ChEMBL drug acts on a human gene of the group's target evidence.
Natural-model score
How complete and how well supported the chain to each human disease is, out of 100, by stated rules. It does not say that the animal is a validated model of the human disease. How the score works.
75.6 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.83 | 29.1 of 35 |
| Drugs | A drug has reached phase 1/2 for this disease | 12.5 of 25 |
| Ortholog | One to one ortholog | 20.0 of 20 |
| Both routes | Both routes found this disease | 10.0 of 10 |
| Species | 1 naturally occurring species entry marked as a defect. 1 genetically engineered entry is not counted | 4.0 of 10 |
Species
The chain follows only the species entries that OMIA marks as a defect.
| Species | Scientific name | OMIA entry | A defect |
|---|---|---|---|
| domestic cattle | Bos taurus | OMIA:002432-9913 | Yes |
| pig Genetically engineered, not naturally occurring. Not counted in the score. | Sus scrofa | OMIA:002432-9823 | Yes |
Genes
Each gene OMIA records for a species entry, and the human gene it reaches through Ensembl's orthologs.
| Species | Animal gene | Human gene | Ortholog |
|---|---|---|---|
| domestic cattle | CLN3 ceroid-lipofuscinosis, neuronal 3 NCBI Gene 504799 | CLN3 Ensembl | one to one |
| pig | CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin NCBI Gene 100127354 | CLN3 Ensembl | one to one |
Human diseases
Two routes lead from an OMIA group to a Mondo human disease: OMIA's own Mondo link, and the group's OMIM numbers through Mondo's cross-references.
- OMIA's own Mondo link: found a disease.
- OMIA's OMIM numbers: found a disease.
| Mondo disease | Name | Found by |
|---|---|---|
| MONDO:0008767 | neuronal ceroid lipofuscinosis 3 A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments. | Both routes |
Target evidence
Each Open Targets association between one of the group's human genes and one of its human diseases, with its overall score and the score for each kind of evidence.
| Human gene | Human disease | Score | Evidence | Kinds of evidence |
|---|---|---|---|---|
| CLN3 | neuronal ceroid lipofuscinosis 3 | 0.83 | 299 | Genetic association 0.92 Genetic literature 0.85 Animal model 0.36 Literature 0.05 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.